MUTANT

The MUTANT tool was implemented as a standalone software that can connect to the Internet to retrieve other related genomic information from ThaiMUT database . To generate the mutation nomenclature, the gene sequences and others information including pseudogene information are retrieved from the online ThaiMUT database where users can locally store such information for future use. To facilitate the mutation annotation, MUTANT can graphically display the human genome gene structure (exon, intron, up/downstream regions, etc.) via querying of a target gene symbol. Once the target area is located, users can annotate the mutation by a simple point and click on the location as well as selecting the type of mutation, e.g., substitution, insertion, deletion and others. MUTANT can also display mutations through a popular web-visualization- interface, named GBrowse as well as offering the listing of annotated mutation results in both nucleotide and amino acid forms. Comparison among different ethnic specific databases can be also be done by using the extensible markup language (XML) exporting feature of MUTANT.